Rare Disease Day - February 28th, 2023
Plus One Foundation joins the rare disease community to increase awareness, knowledge, and understanding about rare diseases to draw research and treatment attention and create hope.
A rare disease…
is classified as one that affects fewer than 200,000 Americans. But nationwide, 30 million Americans are afflicted with 7,000 different rare diseases – that’s nearly 10 percent of the U.S. population! And worldwide, rare diseases affect more than 300 million people. You may not even know it, but chances are, you may have a friend or family member who lives with one of these conditions.
Almost half of these diseases are neurological, and 90 percent of rare childhood disorders have major neurological effects.
Rare neurological diseases affect the nervous system and are estimated to affect approximately five to eight percent of the world's population. Despite their impact, these diseases are often overlooked and under-researched. In addition, living with a rare neurological disease can be challenging, both for the person affected and their family. Each disease has its own characteristics requiring special care and treatment methods, drugs, consumables, special foods and medical devices.
The lack of awareness and resources available for many of these conditions can make it difficult for patients to manage their symptoms and maintain a good quality of life.
But there is hope!
There are ways to improve quality of life and provide support. Connecting with support groups, managing symptoms with medications and therapies, staying active and engaged, planning for the future, and advocating for awareness and research are all important steps towards a better life for patients with rare neurological diseases.
In addition, rehabilitation is an important aspect of care for individuals with rare neurological diseases, and alternative approaches, such as tele-rehabilitation, animal-assisted therapy, music therapy, and adventure therapy, can provide unique and effective ways to achieve rehabilitation goals. These alternative approaches can help individuals with rare neurological diseases improve function, enhance well-being, and feel a sense of purpose and accomplishment.
Recent innovations and advancements in genetics and technology offer important opportunities for prenatal diagnosis of rare diseases. There are also newly developed genome technologies that determine rare disease risks in families. In particular, for couples with consanguineous marriages or family history of the disease, receiving genetic counseling before pregnancy will increase the chance of benefiting from these developments.
Some of the more commonly known rare neurological diseases and their symptoms, causes, and treatments include:
Huntington's Disease is a neurodegenerative disorder that affects muscle coordination and leads to cognitive decline and psychiatric symptoms. It is caused by a genetic mutation that leads to the death of nerve cells in the brain. Symptoms typically start in middle age and progress gradually over time. There is currently no cure for Huntington's disease, but medications and therapies can help manage symptoms and improve quality of life.
Amyotrophic Lateral Sclerosis (ALS) is a neurodegenerative disorder that affects the nerve cells responsible for controlling voluntary muscle movement. It leads to muscle weakness, difficulty speaking and swallowing, and eventually paralysis. The cause of ALS is not fully understood, but a combination of genetic and environmental factors is believed to play a role. There is currently no cure for ALS, but treatments can help manage symptoms and prolong survival.
Multiple Sclerosis (MS) is an autoimmune disorder that affects the central nervous system and causes inflammation and damage to the protective covering of nerve fibers. This leads to a range of symptoms including muscle weakness, difficulty with coordination and balance, and vision problems. The exact cause of MS is not known, but it is believed to be a combination of genetic and environmental factors. Medications can help slow progression of the disease and manage symptoms.
Dystonia is a movement disorder characterized by muscle contractions that cause twisting and repetitive movements or abnormal postures. It can affect any part of the body and can be caused by a range of factors, including genetic mutations, brain injury, or exposure to certain toxins. Medications, therapy, and, in some cases, surgery, can help manage symptoms.